Zobrazeno 1 - 10
of 538
pro vyhledávání: '"T, Casals"'
Autor:
Epp-Stobbe, Amarah1,2 (AUTHOR) mtsai@csipacific.ca, Tsai, Ming-Chang1 (AUTHOR), Klimstra, Marc D.1,2 (AUTHOR) klimstra@uvic.ca
Publikováno v:
Sensors (14248220). Oct2024, Vol. 24 Issue 20, p6699. 15p.
Publikováno v:
Gastroenterología y Hepatología. 28:20-22
Cystic fibrosis is a multiorgan autosomal recessive disease resulting from mutations in a gene located on the long arm of chromosome 7. The disease is usually diagnosed in the first few years of life when it typically presents with severe pulmonary m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2fede533e2ea8a809dd01df90560b37f
https://doi.org/10.1157/13070379
https://doi.org/10.1157/13070379
Autor:
M D, Ramos, D, Trujillano, R, Olivar, F, Sotillo, S, Ossowski, J, Manzanares, J, Costa, S, Gartner, C, Oliva, E, Quintana, M I, Gonzalez, C, Vazquez, X, Estivill, T, Casals
Publikováno v:
Clinical genetics. 86(1)
The term cystic fibrosis (CF)-like disease is used to describe patients with a borderline sweat test and suggestive CF clinical features but without two CFTR(cystic fibrosis transmembrane conductance regulator) mutations. We have performed the extens
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7e64eb1c5e7e2c8da3f6e26f56db5c75
https://pubmed.ncbi.nlm.nih.gov/23837941
https://pubmed.ncbi.nlm.nih.gov/23837941
Autor:
Kasmi, I1 (AUTHOR) irenakasmi@hotmail.com, Kasmi, G2 (AUTHOR), Basholli, B1 (AUTHOR), Sefa, HS3 (AUTHOR), Vevecka, E1 (AUTHOR)
Publikováno v:
Balkan Journal of Medical Genetics. Jun2024, Vol. 27 Issue 1, p31-36. 6p.
Autor:
Potamos, Georgios1 (AUTHOR) eliana.stavrou@ouc.ac.cy, Stavrou, Eliana1 (AUTHOR), Stavrou, Stavros1 (AUTHOR)
Publikováno v:
Sensors (14248220). Jun2024, Vol. 24 Issue 11, p3458. 26p.
Publikováno v:
Archives of Iranian Medicine (AIM). Jun2024, Vol. 27 Issue 6, p334-340. 7p.
Autor:
L. Osborne, G. Santis, M. Schwarz, K. Klinger, T. Dörk, I. McIntosh, M. Schwartz, V. Nunes, M. Macek, J. Reiss, W. E. Highsmith, R. McMahon, G. Novelli, N. Malik, J. Bürger, M. Anvret, A. Wallace, C. Williams, C. Mathew, R. Rozen, C. Graham, P. Gasparini, J. Bal, J. J. Cassiman, A. Balassopoulou, L. Davidow, S. Raskin, L. Kalaydjieva, B. Kerem, S. Richards, B. Simon-Bouy, M. Super, U. Wulbrand, M. Keston, X. Estivill, V. Vavrova, K. J. Friedman, D. Barton, B. Dallapiccola, M. Stuhrmann, F. Beards, A. J. M. Hill, P. F. Pignatti, H. Cuppens, D. Angelicheva, B. Tümmler, D. J. H. Brock, T. Casals, J. Schmidtke, A. C. Magee, A. Bonizzato, C. De Boeck, A. Kuffardjieva, M. Hodson, R. A. Knight
Publikováno v:
Human Genetics. 89:653-658
The N1303K mutation was identified in the second nucleotide binding fold of the cystic fibrosis (CF) gene last year. We have gathered data from laboratories throughout Europe and the United States of America in order to estimate its frequency and to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0636d0ccb77e88d8d73c27b2dd64b1c
https://doi.org/10.1007/bf00221957
https://doi.org/10.1007/bf00221957
Publikováno v:
Gastroenterologia y hepatologia. 28(1)
Cystic fibrosis is a multiorgan autosomal recessive disease resulting from mutations in a gene located on the long arm of chromosome 7. The disease is usually diagnosed in the first few years of life when it typically presents with severe pulmonary m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6835c9ff5cff720e494eb65e5b81847a
https://pubmed.ncbi.nlm.nih.gov/15691464
https://pubmed.ncbi.nlm.nih.gov/15691464
Autor:
T, Casals, J, De-Gracia, M, Gallego, J, Dorca, B, Rodríguez-Sanchón, M D, Ramos, J, Giménez, A, Cisteró-Bahima, C, Olveira, X, Estivill
Publikováno v:
Clinical genetics. 65(6)
While all patients with cystic fibrosis (CF) have mutations in both CFTR alleles, often only one CFTR change is detected in patients with other lung disorders. The aim of this study was to investigate whether heterozygosity for CFTR mutations could b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a432a5ea3e83727f80a4aa694ccf1ecd
https://pubmed.ncbi.nlm.nih.gov/15151509
https://pubmed.ncbi.nlm.nih.gov/15151509
Autor:
S, Larriba, L, Bassas, S, Egozcue, J, Giménez, M D, Ramos, O, Briceño, X, Estivill, T, Casals
Publikováno v:
Biology of reproduction. 65(2)
Cystic fibrosis transmembrane regulator (CFTR), multidrug-resistant (MDR)1, and multidrug resistance-associated (MRP) proteins belong to the ATP-binding cassette (ABC) transporter superfamily. A compensatory regulation of MDR1 and CFTR gene expressio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c1d4714fa914a22b6c3b67df1274f61c
https://pubmed.ncbi.nlm.nih.gov/11466205
https://pubmed.ncbi.nlm.nih.gov/11466205